rs1057519405

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;C)	8.8	Mental retardation, type 5; SYNGAP1-related
(C;C)	0	common in clinvar

Make rs1057519405(-;-)

Reference

GRCh38.p7 38.3/150

Chromosome

6

Position

33440737

Gene

SYNGAP1

is a	snp
is	mentioned by
dbSNP	rs1057519405
dbSNP (classic)	rs1057519405
ClinGen	rs1057519405
ebi	rs1057519405
HLI	rs1057519405
Exac	rs1057519405
Gnomad	rs1057519405
Varsome	rs1057519405
LitVar	rs1057519405
Map	rs1057519405
PheGenI	rs1057519405
Biobank	rs1057519405
1000 genomes	rs1057519405
hgdp	rs1057519405
ensembl	rs1057519405
geneview	rs1057519405
scholar	rs1057519405
google	rs1057519405
pharmgkb	rs1057519405
gwascentral	rs1057519405
openSNP	rs1057519405
23andMe	rs1057519405
SNPshot	rs1057519405
SNPdbe	rs1057519405
MSV3d	rs1057519405
GWAS Ctlg	rs1057519405

Max Magnitude

8.8

ClinVar
Risk	rs1057519405(-;-)
Alt	rs1057519405(-;-)
Reference	Rs1057519405(C;C)
Significance	Pathogenic
Disease	Mental retardation
Variation	info
Gene	SYNGAP1
CLNDBN	Mental retardation, autosomal dominant 5
Reversed	0
HGVS	NC_000006.11:g.33408514delC
CLNSRC
CLNACC	RCV000417098.1,